Lipid imbalance in the neurological disorder, Niemann-Pick C disease.

Abstract:

:Niemann-Pick C (NPC) disease is a progressive neurological disorder in which cholesterol, gangliosides and bis-monoacylglycerol phosphate accumulate in late endosomes/lysosomes. This disease is caused by mutations in either the NPC1 or NPC2 gene. NPC1 and NPC2 are involved in egress of lipids, particularly cholesterol, from late endosomes/lysosomes but the precise functions of these proteins are not clear. An important question regarding the function of NPC proteins is: why do mutations in these ubiquitously expressed proteins have such dire consequences in the brain? This review summarizes the roles of NPC proteins in lipid homeostasis particularly in the central nervous system.

journal_name

FEBS Lett

journal_title

FEBS letters

authors

Vance JE

doi

10.1016/j.febslet.2006.06.008

subject

Has Abstract

pub_date

2006-10-09 00:00:00

pages

5518-24

issue

23

eissn

0014-5793

issn

1873-3468

pii

S0014-5793(06)00710-1

journal_volume

580

pub_type

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